Genename Variants
RIN1(NM_004292,Ras and Rab interactor 1,783aa) g.11:66100043G>A,c.2056C>T,p.P686S
RIN1(NM_004292,Ras and Rab interactor 1,783aa) g.11:66100001C>T,c.2098G>A,p.V700I
RIN1(NM_004292,Ras and Rab interactor 1,783aa) g.11:66099988G>A,c.2111C>T,p.A704V
RIMS3(NM_014747,regulating synaptic membrane exocytosis 3,308aa) g.1:41107564C>T,c.34G>A,p.G12R
RIMS3(NM_014747,regulating synaptic membrane exocytosis 3,308aa) g.1:41107525C>T,c.73G>A,p.G25S
RIMS2(NM_001100117,regulating synaptic membrane exocytosis 2,1349aa) g.8:105001628A>G,c.3023A>G,p.H1008R
RIMS2(NM_001100117,regulating synaptic membrane exocytosis 2,1349aa) g.8:104943552A>C,c.2306A>C,p.D769A
RIMS2(NM_001100117,regulating synaptic membrane exocytosis 2,1349aa) g.8:104924365G>C,c.1777G>C,p.V593L
RIMS2(NM_001100117,regulating synaptic membrane exocytosis 2,1349aa) g.8:104924318G>A,c.1730G>A,p.R577H
RIMS2(NM_001100117,regulating synaptic membrane exocytosis 2,1349aa) g.8:104924317C>T,c.1729C>T,p.R577C
RIMS2(NM_001100117,regulating synaptic membrane exocytosis 2,1349aa) g.8:104898074G>A,c.1247G>A,p.R416Q
RIMS2(NM_001100117,regulating synaptic membrane exocytosis 2,1349aa) g.8:104897660C>T,c.833C>T,p.S278F
RIMS2(NM_001100117,regulating synaptic membrane exocytosis 2,1349aa) g.8:104709424A>G,c.287A>G,p.H96R
RIMS2(NM_001100117,regulating synaptic membrane exocytosis 2,1349aa) g.8:104709315A>G,c.178A>G,p.K60E
RIMS1(NM_014989,regulating synaptic membrane exocytosis 1,1692aa) g.6:73043358A>G,c.4186A>G,p.M1396V
RIMS1(NM_014989,regulating synaptic membrane exocytosis 1,1692aa) g.6:73023357G>A,c.4112G>A,p.R1371H
RIMS1(NM_014989,regulating synaptic membrane exocytosis 1,1692aa) g.6:73017051T>C,c.3941T>C,p.L1314P
RIMS1(NM_014989,regulating synaptic membrane exocytosis 1,1692aa) g.6:72984123C>T,c.3470C>T,p.P1157L
RIMS1(NM_014989,regulating synaptic membrane exocytosis 1,1692aa) g.6:72960085A>G,c.2294A>G,p.Q765R
RIMS1(NM_014989,regulating synaptic membrane exocytosis 1,1692aa) g.6:72892633G>A,c.1459G>A,p.A487T
RIMS1(NM_014989,regulating synaptic membrane exocytosis 1,1692aa) g.6:72889549C>T,c.743C>T,p.S248L
RIMS1(NM_014989,regulating synaptic membrane exocytosis 1,1692aa) g.6:72596754C>T,c.28C>T,p.P10S
RIMKLB(NM_020734,ribosomal modification protein rimK-like family member B,386aa) g.12:8926292C>T,c.1073C>T,p.T358M
RIMKLB(NM_020734,ribosomal modification protein rimK-like family member B,386aa) g.12:8926129G>A,c.910G>A,p.A304T
RIMKLB(NM_020734,ribosomal modification protein rimK-like family member B,386aa) g.12:8902470A>G,c.188A>G,p.N63S
RIMKLA(NM_173642,ribosomal modification protein rimK-like family member A,391aa) g.1:42880567del,c.1098del,p.366fs
RIMKLA(NM_173642,ribosomal modification protein rimK-like family member A,391aa) g.1:42880562A>G,c.1093A>G,p.T365A
RIMKLA(NM_173642,ribosomal modification protein rimK-like family member A,391aa) g.1:42880545G>A,c.1076G>A,p.R359Q
This is an excerpt of data-sheet including the published polymorphism sites observed in our studies. For the complete variant lists and potential collaboration, please contact huh@cougarlab.org